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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARGFX
arginine-fifty homeobox
Chromosome 3 · 3q13.33
NCBI Gene: 503582Ensembl: ENSG00000186103.5HGNC: HGNC:30146UniProt: A6NJG6
6PubMed Papers
10Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleuschromatinDNA-binding transcription factor activity, RNA polymerase II-specificdevice complicationcervical carcinomaAbnormality of the gastrointestinal tractbreast carcinoma
✦AI Summary

ARGFX (arginine-fifty homeobox) is a mammalian-specific PRD-like homeobox transcription factor that plays a critical role in early embryonic development, particularly during the maternal-to-zygotic transition (MZT) 1. The gene originated through duplication from Otx1, Otx2, or Crx during early mammalian evolution, most likely on the eutherian stem lineage 2. ARGFX functions as a transcriptional activator that upregulates genes normally expressed in blastocysts while downregulating genes associated with earlier developmental stages and undifferentiated cell states 34. The protein is specifically expressed in preimplantation embryos and pluripotent stem cells, with deficiency severely impairing MZT and lineage specification 15. ARGFX defects lead to aberrant retention of histone acetylation and contribute to cleavage-stage embryonic arrest 1. Interestingly, while functional in humans, ARGFX has been lost in mice and is disrupted in most mammalian genomes, with humans being the only species identified retaining the full open reading frame 26. This gene represents a key regulator of human embryonic genome activation and early development.

Sources cited
1
ARGFX is involved in maternal-to-zygotic transition, its deficiency impairs MZT and lineage specification, and causes aberrant histone acetylation retention leading to embryonic arrest
PMID: 39809281
2
ARGFX originated by duplication from Otx1/Otx2/Crx during early mammalian evolution and humans are the only mammals retaining the full open reading frame
PMID: 20565723
3
ARGFX upregulates blastocyst-expressed genes and downregulates earlier developmental genes
PMID: 35512670
4
ARGFX functions as a transcriptional activator
PMID: 27412763
5
ARGFX is expressed specifically in preimplantation embryos and pluripotent stem cells
PMID: 26360614
6
ARGFX has been lost in mice but retained in humans
PMID: 21679462
Disease Associationsⓘ10
device complicationOpen Targets
0.11Weak
cervical carcinomaOpen Targets
0.10Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.09Suggestive
breast carcinomaOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
Schnyder corneal dystrophyOpen Targets
0.00Suggestive
strokeOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DUXBProtein interaction66%TPRX1Protein interaction66%DUXAProtein interaction61%NANOGNBCo-mentioned in literature50%DPRXCo-mentioned in literature40%TPRX2Co-mentioned in literature40%
Tissue Expression6 tissues
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
ARGFXDUXBTPRX1DUXANANOGNBDPRXTPRX2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A6NJG6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.19 [0.71–1.84]
RankingsWhere ARGFX stands among ~20K protein-coding genes
  • #18,019of 20,598
    Most Researched6
  • #16,801of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedARGFX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PRD-Class Homeobox Genes in Bovine Early Embryos: Function, Evolution, and Overlapping Roles.
PMID: 35512670
Mol Biol Evol · 2022
1.00
2
Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.
PMID: 39325344
J Assist Reprod Genet · 2024
0.90
3
Allelic transcriptomic profiling identifies the role of PRD-like homeobox genes in human embryonic-cleavage-stage arrest.
PMID: 39809281
Dev Cell · 2025
0.80
4
The origin and evolution of ARGFX homeobox loci in mammalian radiation.
PMID: 20565723
BMC Evol Biol · 2010
0.70
5
Human-specific contributors to cleavage-stage embryonic arrest during maternal to zygotic transition.
PMID: 40328227
Dev Cell · 2025
0.60